Article
Characterization of the P373L E-cadherin germline missense mutation and implication for clinical management.
European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology - 1 Nov 2007
Corso G, Roviello F, Paredes J, Pedrazzani C, Novais M, Correia J, Marrelli D, Cirnes L, Seruca R, Oliveira C, Suriano G
Abstract excerpt
AIM: Hereditary diffuse gastric cancer (HDGC) is a cancer susceptibility syndrome caused by E-cadherin germline mutations. One-third of these mutations are of the missense type, representing a burden in genetic counselling. A new germline missense mutation (P373L) was recently identified in a HDGC Italian family. The present work aimed at addressing the disease-causative nature of the P373L mutant. METHODS:...
Topics
- Amino Acid Substitution
- Cadherins
- Carrier State
- Cell Adhesion
- Cell Line, Tumor
- DNA Methylation
- Germ-Line Mutation
- Humans
- Mutation, Missense
- Neoplasm Invasiveness